(Q18553404)

English

brachydactyly-syndactyly syndrome

Human disease

Brachydactyly-syndactyly, Zhao type
Bdsd
BRACHYDACTYLY-SYNDACTYLY SYNDROME

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No label defined

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Statements

instance of

developmental defect during embryogenesis

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

0 references

autosomal genetic disease

1 reference

15 May 2019

syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0012544

autosomal dominant disease

1 reference

30 November 2020

1 reference

30 November 2020

3 references

13 August 2019

Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000128714/MONDO_0012544

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

exact match

http://purl.obolibrary.org/obo/DOID_0050689

1 reference

30 November 2020

http://identifiers.org/doid/DOID:0050689

1 reference

stated in

Identifiers.org

reference URL

https://registry.identifiers.org/registry/doid

http://www.orpha.net/ORDO/Orphanet_93409

0 references

Identifiers

MeSH descriptor ID

C565193

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

28 August 2019

0 references

1 reference

30 November 2020

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

1 reference

28 August 2019

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

inferred by common Orphanet mappings on source and on Wikidata

16 June 2023

0 references

(Q18553404)

brachydactyly-syndactyly syndrome

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